Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

12 matching diseasesClear search ×

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

ORPHA:71277

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

ORPHA:80

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

ORPHA:325524

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

ORPHA:617408

Classic heparin-induced thrombocytopenia

Classic heparin-associated thrombocytopenia · Classic HAT

ORPHA:3325

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

ORPHA:268145

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

ORPHA:324604

Classic phenylketonuria

Classic PKU · PKU

ORPHA:79254

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

ORPHA:443192

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

ORPHA:18

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

ORPHA:98962

Pelizaeus-Merzbacher disease, classic form

Classic PMD

ORPHA:280219